{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA187611776",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488579[alleleid]",
        "alleleId": 488579,
        "preferredName": "NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497155",
        "RCV": [
          "RCV000595740",
          "RCV001853999"
        ],
        "variationId": 497155
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144995254G>A?assembly=hg19",
        "id": "chr8:g.144995254G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143921086G>A?assembly=hg38",
        "id": "chr8:g.143921086G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/935096656",
        "rs": 935096656
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144995254-G-A?dataset=gnomad_r2_1",
        "id": "8-144995254-G-A",
        "variant": "8:144995254 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921086-G-A?dataset=gnomad_r3",
        "id": "8-143921086-G-A",
        "variant": "8:143921086 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921086-G-A?dataset=gnomad_r4",
        "id": "8-143921086-G-A",
        "variant": "8:143921086 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143921086,
          "referenceAllele": "G",
          "start": 143921085
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143921086G>A",
        "CM000670.2:g.143921086G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144995254,
          "referenceAllele": "G",
          "start": 144995253
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144995254G>A",
        "CM000670.1:g.144995254G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145067242,
          "referenceAllele": "G",
          "start": 145067241
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145067242G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60660,
          "referenceAllele": "C",
          "start": 60659
        }
      ],
      "hgvs": [
        "NG_012492.1:g.60660C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8873,
          "referenceAllele": "C",
          "start": 8872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.8867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala2956Val",
        "hgvsWellDefined": "ENSP00000437303.2:p.Ala2956Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8828,
          "referenceAllele": "C",
          "start": 8827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.8786C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala2929Val",
        "hgvsWellDefined": "ENSP00000510528.1:p.Ala2929Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8786,
          "referenceAllele": "C",
          "start": 8785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.8453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala2818Val",
        "hgvsWellDefined": "ENSP00000510788.1:p.Ala2818Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8679,
          "referenceAllele": "C",
          "start": 8678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.8666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala2889Val",
        "hgvsWellDefined": "ENSP00000510329.1:p.Ala2889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8871,
          "referenceAllele": "C",
          "start": 8870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2912Val",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8735C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8735C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2912Val"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2912Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5473,
          "referenceAllele": "C",
          "start": 5472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.5435C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala1812Val",
        "hgvsWellDefined": "ENSP00000433982.2:p.Ala1812Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9316,
          "referenceAllele": "C",
          "start": 9315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.9146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala3049Val",
        "hgvsWellDefined": "ENSP00000323856.4:p.Ala3049Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8864,
          "referenceAllele": "C",
          "start": 8863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2912Val",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8803,
          "referenceAllele": "C",
          "start": 8802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala2912Val",
        "hgvsWellDefined": "ENSP00000346602.3:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8818,
          "referenceAllele": "C",
          "start": 8817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.8669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala2890Val",
        "hgvsWellDefined": "ENSP00000347044.2:p.Ala2890Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8750,
          "referenceAllele": "C",
          "start": 8749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.8693C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala2898Val",
        "hgvsWellDefined": "ENSP00000348702.3:p.Ala2898Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8693C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8693C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2898Val"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2898Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8756,
          "referenceAllele": "C",
          "start": 8755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.8747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala2916Val",
        "hgvsWellDefined": "ENSP00000350277.2:p.Ala2916Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8713,
          "referenceAllele": "C",
          "start": 8712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.8639C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala2880Val",
        "hgvsWellDefined": "ENSP00000381756.2:p.Ala2880Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8854,
          "referenceAllele": "C",
          "start": 8853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.8816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala2939Val",
        "hgvsWellDefined": "ENSP00000388180.2:p.Ala2939Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8804,
          "referenceAllele": "C",
          "start": 8803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.8804C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala2935Val",
        "hgvsWellDefined": "ENSP00000434583.1:p.Ala2935Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175328",
      "coordinates": [
        {
          "allele": "T",
          "end": 8865,
          "referenceAllele": "C",
          "start": 8864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.8816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2939Val",
        "hgvsWellDefined": "NP_000436.2:p.Ala2939Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479717",
      "coordinates": [
        {
          "allele": "T",
          "end": 8750,
          "referenceAllele": "C",
          "start": 8749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.8693C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2898Val",
        "hgvsWellDefined": "NP_958780.1:p.Ala2898Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486408",
      "coordinates": [
        {
          "allele": "T",
          "end": 8818,
          "referenceAllele": "C",
          "start": 8817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.8669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2890Val",
        "hgvsWellDefined": "NP_958781.1:p.Ala2890Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812108",
      "coordinates": [
        {
          "allele": "T",
          "end": 9316,
          "referenceAllele": "C",
          "start": 9315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.9146C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3049Val",
        "hgvsWellDefined": "NP_958782.1:p.Ala3049Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492798",
      "coordinates": [
        {
          "allele": "T",
          "end": 8713,
          "referenceAllele": "C",
          "start": 8712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.8639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2880Val",
        "hgvsWellDefined": "NP_958783.1:p.Ala2880Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497433",
      "coordinates": [
        {
          "allele": "T",
          "end": 8803,
          "referenceAllele": "C",
          "start": 8802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2912Val",
        "hgvsWellDefined": "NP_958784.1:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502045",
      "coordinates": [
        {
          "allele": "T",
          "end": 8756,
          "referenceAllele": "C",
          "start": 8755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.8747C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2916Val",
        "hgvsWellDefined": "NP_958785.1:p.Ala2916Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506679",
      "coordinates": [
        {
          "allele": "T",
          "end": 8864,
          "referenceAllele": "C",
          "start": 8863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2912Val",
        "hgvsWellDefined": "NP_958786.1:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9264,
          "referenceAllele": "C",
          "start": 9263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.9161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3054Val",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3054Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8864,
          "referenceAllele": "C",
          "start": 8863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.8762C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2921Val",
        "hgvsWellDefined": "XP_005251035.1:p.Ala2921Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8807,
          "referenceAllele": "C",
          "start": 8806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_005251036.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8897,
          "referenceAllele": "C",
          "start": 8896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_005251037.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8750,
          "referenceAllele": "C",
          "start": 8749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.8708C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2903Val",
        "hgvsWellDefined": "XP_005251038.1:p.Ala2903Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8749,
          "referenceAllele": "C",
          "start": 8748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.8684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2895Val",
        "hgvsWellDefined": "XP_005251039.1:p.Ala2895Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8681,
          "referenceAllele": "C",
          "start": 8680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.8666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala2889Val",
        "hgvsWellDefined": "XP_005251040.1:p.Ala2889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8740,
          "referenceAllele": "C",
          "start": 8739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.8654C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2885Val",
        "hgvsWellDefined": "XP_005251041.1:p.Ala2885Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8927,
          "referenceAllele": "C",
          "start": 8926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.8831C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2944Val",
        "hgvsWellDefined": "XP_006716651.1:p.Ala2944Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8696,
          "referenceAllele": "C",
          "start": 8695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.8681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala2894Val",
        "hgvsWellDefined": "XP_006716652.1:p.Ala2894Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8696,
          "referenceAllele": "C",
          "start": 8695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.8681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2894Val",
        "hgvsWellDefined": "XP_006716653.1:p.Ala2894Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8852,
          "referenceAllele": "C",
          "start": 8851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_011515432.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8681,
          "referenceAllele": "C",
          "start": 8680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.8666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2889Val",
        "hgvsWellDefined": "XP_011515433.1:p.Ala2889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5476,
          "referenceAllele": "C",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.5381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala1794Val",
        "hgvsWellDefined": "XP_011515434.1:p.Ala1794Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9357,
          "referenceAllele": "C",
          "start": 9356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.9161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3054Val",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3054Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8883,
          "referenceAllele": "C",
          "start": 8882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.8762C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2921Val",
        "hgvsWellDefined": "XP_005251035.1:p.Ala2921Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8842,
          "referenceAllele": "C",
          "start": 8841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_005251036.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8927,
          "referenceAllele": "C",
          "start": 8926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_005251037.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8764,
          "referenceAllele": "C",
          "start": 8763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.8708C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2903Val",
        "hgvsWellDefined": "XP_005251038.1:p.Ala2903Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8753,
          "referenceAllele": "C",
          "start": 8752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.8684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2895Val",
        "hgvsWellDefined": "XP_005251039.1:p.Ala2895Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10161,
          "referenceAllele": "C",
          "start": 10160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.8654C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2885Val",
        "hgvsWellDefined": "XP_005251041.1:p.Ala2885Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8935,
          "referenceAllele": "C",
          "start": 8934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.8831C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2944Val",
        "hgvsWellDefined": "XP_006716651.1:p.Ala2944Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8806,
          "referenceAllele": "C",
          "start": 8805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.8681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2894Val",
        "hgvsWellDefined": "XP_006716653.1:p.Ala2894Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8871,
          "referenceAllele": "C",
          "start": 8870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.8750C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2917Val",
        "hgvsWellDefined": "XP_011515432.1:p.Ala2917Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8790,
          "referenceAllele": "C",
          "start": 8789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.8666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2889Val",
        "hgvsWellDefined": "XP_011515433.1:p.Ala2889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5498,
          "referenceAllele": "C",
          "start": 5497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.5381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala1794Val",
        "hgvsWellDefined": "XP_011515434.1:p.Ala1794Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175328",
      "coordinates": [
        {
          "allele": "T",
          "end": 8865,
          "referenceAllele": "C",
          "start": 8864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.8816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2939Val",
        "hgvsWellDefined": "NP_000436.2:p.Ala2939Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479717",
      "coordinates": [
        {
          "allele": "T",
          "end": 8750,
          "referenceAllele": "C",
          "start": 8749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.8693C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2898Val",
        "hgvsWellDefined": "NP_958780.1:p.Ala2898Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8693C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8693C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2898Val"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2898Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486408",
      "coordinates": [
        {
          "allele": "T",
          "end": 8732,
          "referenceAllele": "C",
          "start": 8731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.8669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2890Val",
        "hgvsWellDefined": "NP_958781.1:p.Ala2890Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812108",
      "coordinates": [
        {
          "allele": "T",
          "end": 9366,
          "referenceAllele": "C",
          "start": 9365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.9146C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3049Val",
        "hgvsWellDefined": "NP_958782.1:p.Ala3049Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492798",
      "coordinates": [
        {
          "allele": "T",
          "end": 8746,
          "referenceAllele": "C",
          "start": 8745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.8639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2880Val",
        "hgvsWellDefined": "NP_958783.1:p.Ala2880Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497433",
      "coordinates": [
        {
          "allele": "T",
          "end": 8830,
          "referenceAllele": "C",
          "start": 8829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2912Val",
        "hgvsWellDefined": "NP_958784.1:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502045",
      "coordinates": [
        {
          "allele": "T",
          "end": 8856,
          "referenceAllele": "C",
          "start": 8855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.8747C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2916Val",
        "hgvsWellDefined": "NP_958785.1:p.Ala2916Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506679",
      "coordinates": [
        {
          "allele": "T",
          "end": 8871,
          "referenceAllele": "C",
          "start": 8870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.8735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2912Val",
        "hgvsWellDefined": "NP_958786.1:p.Ala2912Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8735C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8735C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2912Val"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2912Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}